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27 Possible Causes for Muscle Biopsy showing Presence of Vacuoles

  • Glycogen Storage Disease Type 2

    Muscle biopsy in Pompe disease shows the presence of vacuoles that stain positively for glycogen.[dx.doi.org] Quantitatively, muscle glycogen content is elevated up to tenfold above normal in infantile Pompe disease and to a lesser extent in late onset patients.[dx.doi.org] Furthermore, there is anesthesia risk (see section below) in infantile Pompe disease if an open biopsy is done. 26 This risk should be carefully considered, particularly if[dx.doi.org]

  • Hypokalemic Periodic Paralysis

    Hypokalemic periodic paralysis (hypoKPP) is a rare, autosomal dominant channelopathy characterized by muscle weakness or paralysis when there is a fall in potassium levels in the blood. In individuals with this mutation, attacks often begin in adolescence and most commonly occur on awakening or after sleep or rest[…][en.wikipedia.org]

  • Myositis

    In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com] The T-cell receptor repertoire observed in lymphocytes that have been isolated from the muscles of these patients shows restriction when compared to the lymphocytes of the[rheumatologyadvisor.com]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    In periodic paralysis muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease.[ajns.paans.org] The patient’s electrophysiological examination included nerve conduction study and electromyography (EMG) exclude the presence of myotonia and muscle biopsy showed mild myopathic[ajns.paans.org] Frequency or severity of attacks did not correlate with the presence of vacuoles but those were more easily found in patients with long term disease [10].[ajns.paans.org]

  • Distal Myopathy Type 3

    The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4.[doi.org] The imunocitochemistry on muscle biopsy performed in one of our patients showed absence of dysferlin in muscle membrane.[doi.org] These dystrophic characteristics with fiber necrosis and regeneration without the presence of vacuoles have been revealed in other cases of MM 12,13.[doi.org]

  • Oculopharyngeal Muscular Dystrophy

    Muscle biopsy in the four affected patients showed variation in fiber size, and the presence of small angulated fibers and occasional rimmed vacuoles.[ncbi.nlm.nih.gov] Electron microscopic examination revealed an accumulation of filamentous inclusions in muscle fiber nuclei.[ncbi.nlm.nih.gov] Electromyographs revealed myogenic/neurogenic changes, and computed tomography disclosed selective muscle wasting with fatty replacement, predominantly in the lower extremities[ncbi.nlm.nih.gov]

  • Paramyotonia Congenita

    Muscle biopsy - A muscle biopsy showing vacuoles confirms the presence of non-specific myopathy; however, it does not confirm a diagnosis of paramyotonia congenita.[symptoma.com] A positive test is characterized by two key findings in affected muscles: compound muscle action potentials are decreased and weakening of the muscle with exercise.[symptoma.com]

  • Focal Myositis

    In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com] The T-cell receptor repertoire observed in lymphocytes that have been isolated from the muscles of these patients shows restriction when compared to the lymphocytes of the[rheumatologyadvisor.com]

  • Inclusion Body Myositis

    Muscle biopsy will also show rimmed vacuoles (abnormal cellular structures that are also called inclusion bodies), amyloid deposits (presence of abnormal proteins), and endomysial[hss.edu] Muscle Biopsy Findings Biopsied tissue from affected muscles may show inflammation around muscle fibers and small groups of atrophied fibers.[hss.edu] […] inflammation around muscle fibers (the endomysium is a protective tissue that surrounds the fibers).[hss.edu]

  • Granulomatous Myositis

    In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com] The T-cell receptor repertoire observed in lymphocytes that have been isolated from the muscles of these patients shows restriction when compared to the lymphocytes of the[rheumatologyadvisor.com]

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